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PC c.2120C>T ;(p.T707M)
Variant ID: 11-66618614-G-A
NM_001040716.1(
PC
):c.2120C>T;(p.T707M)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.
Frontiers In Oncology
Li, Yuping Y; Xie, Yupeng Y; Wang, Di D; Xu, Hanyan H; Ye, Junru J; Yin, Jiani C JC; Chen, Junjie J; Yan, Junrong J; Ye, Bin B; Chen, Chengshui C
Publication Date: 2022
Variant appearance in text: PC: 2120C>T; T707M
PubMed Link:
36387164
Variant Present in the following documents:
Table_1.xlsx, sheet 1
View BVdb publication page
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
Plos Genetics
Kohda, Masakazu M; Tokuzawa, Yoshimi Y; Kishita, Yoshihito Y; Nyuzuki, Hiromi H; Moriyama, Yohsuke Y; Mizuno, Yosuke Y; Hirata, Tomoko T; Yatsuka, Yukiko Y; Yamashita-Sugahara, Yzumi Y; Nakachi, Yutaka Y; Kato, Hidemasa H; Okuda, Akihiko A; Tamaru, Shunsuke S; Borna, Nurun Nahar NN; Banshoya, Kengo K; Aigaki, Toshiro T; Sato-Miyata, Yukiko Y; Ohnuma, Kohei K; Suzuki, Tsutomu T; Nagao, Asuteka A; Maehata, Hazuki H; Matsuda, Fumihiko F; Higasa, Koichiro K; Nagasaki, Masao M; Yasuda, Jun J; Yamamoto, Masayuki M; Fushimi, Takuya T; Shimura, Masaru M; Kaiho-Ichimoto, Keiko K; Harashima, Hiroko H; Yamazaki, Taro T; Mori, Masato M; Murayama, Kei K; Ohtake, Akira A; Okazaki, Yasushi Y
Publication Date: 2016-01
Variant appearance in text: PC: 2120C>T; T707M
PubMed Link:
26741492
Variant Present in the following documents:
Main text
pgen.1005679.pdf
pgen.1005679.s025.xlsx, sheet 1
pgen.1005679.s021.xlsx, sheet 2
View BVdb publication page